ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.740T>A (p.Leu247Ter)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003469854 SCV004192408 likely pathogenic Bifunctional peroxisomal enzyme deficiency 2023-04-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003779044 SCV004605619 pathogenic Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2023-07-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu247*) in the HSD17B4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HSD17B4 are known to be pathogenic (PMID: 11810648, 16385454, 20673864). This variant is present in population databases (rs144141837, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with HSD17B4-related conditions. For these reasons, this variant has been classified as Pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.